SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936686
rs28936686
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 GeneticVariation CLINVAR Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
dbSNP: rs28936686
rs28936686
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 GeneticVariation CLINVAR Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 12666119 2003